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HUMAN MUTATION, ISSN 1059-7794, 01/2008, Volume 29, Issue 1, pp. 83 - 90
Stickler syndrome type I (STL1) is a phenotypically heterogeneous disorder characterized by ocular and extraocular features. It is caused by null allele... 
DIFFERENTIAL EXPRESSION | RICH AMINO-PROPEPTIDE | STOP CODON MUTATION | COLA1 | FAMILY | CARTILAGE | II-PROCOLLAGEN | COLLAGEN 2A1 | GENE | GENETICS & HEREDITY | MESSENGER-RNA DECAY | SYNDROME ARTHROOPHTHALMOPATHY | predominantly ocular Stickler | cis element | RNA splicing
Journal Article
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